immunodeficiency 130

Term ID

DOID:0061095

Synonyms

• immunodeficiency 130 with HPV-related verrucosis

Definition

A T cell deficiency that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that has_material_basis_in homozygous mutation in the IL7 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/39352394/

References

• MIM:618309

Ontology

Human Disease   ( DOID:0061095 )